膵臓がん・悪性黒色腫症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NC_000009.12:g.(?_21968219)_(21994341_?)del	CDKN2A	Pathogenic	9	21968218	21994340	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter)	CDKN2A	Pathogenic	9	21994234	21994234	C	A	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.221del (p.Asp74fs)	CDKN2A	Pathogenic	9	21971137	21971137	GT	G	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.238del (p.Arg80fs)	CDKN2A	Likely pathogenic	9	21971120	21971120	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	CDKN2A	Pathogenic/Likely pathogenic	9	21971199	21971199	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA190730408
single nucleotide variant	NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)	CDKN2A	Likely pathogenic	9	21971062	21971062	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086116
Duplication	NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974696	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA5012308
single nucleotide variant	NM_000077.5(CDKN2A):c.151-2A>G	CDKN2A	Pathogenic/Likely pathogenic	9	21971209	21971209	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086464
single nucleotide variant	NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086506
Deletion	NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)	CDKN2A	Likely pathogenic	9	21971003	21971018	TCAGCCAGGTCCACGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656026